Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   


Term:pigmented paravenous chorioretinal atrophy
go back to main search page
Accession:DOID:0111541 term browser browse the term
Definition:An eye disease characterized by the presence of bone corpuscle pigmentation in a paravenous distribution in the ocular fundus that has_material_basis_in heterozygous mutation in CRB1 on chromosome 1q31.3. (DO)
Synonyms:exact_synonym: PPCRA;   PPRCA
 primary_id: MESH:C566801
 alt_id: OMIM:172870
 xref: ORDO:251295
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants       view all columns           Sort by:
pigmented paravenous chorioretinal atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crb1 crumbs cell polarity complex component 1 JBrowse link 13 56,270,519 56,462,893 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15609
    sensory system disease 4769
      eye disease 2338
        Hereditary Eye Diseases 528
          pigmented paravenous chorioretinal atrophy 1
Path 2
Term Annotations click to browse term
  disease 15609
    Developmental Diseases 8986
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7802
        genetic disease 7293
          monogenic disease 4988
            autosomal genetic disease 3968
              autosomal dominant disease 2417
                pigmented paravenous chorioretinal atrophy 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.